Exome Sequencing and Genetic Testing for MODY 英文参考文献.docVIP

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Exome Sequencing and Genetic Testing for MODY 英文参考文献.doc

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Exome Sequencing and Genetic Testing for MODY 英文参考文献

ExomeSequencingandGeneticTestingforMODY StefanJohansson1,2,3,HenrikIrgens1,4,KishanK.Chudasama1,2,JanneMolnes1,JanAerts5,6, FranciscoS.Roque7,IngeJonassen7,8,ShawnLevy9,KariLima10,PerM.Knappskog1,2,GraemeI.Bell11, AndersMolven12,13,Pa?lR.Nj?lstad1,4 * 1DepartmentofClinicalMedicine,UniversityofBergen,Bergen,Norway,2CenterforMedicalGeneticsandMolecularMedicine,HaukelandUniversityHospital,Bergen, Norway,3DepartmentofBiomedicine,UniversityofBergen,Bergen,Norway,4DepartmentofPediatrics,HaukelandUniversityHospital,Bergen,Norway,5Facultyof Engineering – ESAT/SCD, Leuven University, Leuven, Belgium, 6Wellcome Trust Sanger Institute, Cambridge, United Kingdom, 7Computational Biology Unit, Uni Computing,UniResearch,Bergen,Norway,8DepartmentofInformatics,UniversityofBergen,Bergen,Norway,9HudsonAlphaInstitute forBiotechnology,Huntsville, Alabama,UnitedStatesofAmerica,10DivisionofMedicine,DepartmentofEndocrinology,DepartmentsofMedicineandHumanGenetics,AkershusUniversityHospital, L?renskog,Norway,11DepartmentsofMedicineandHumanGenetics,TheUniversityofChicago,Chicago,Illinois,UnitedStatesofAmerica,12GadeInstitute,University ofBergen,Bergen,Norway,13DepartmentofPathology,HaukelandUniversityHospital,Bergen,Norway Abstract Context: Genetic testing for monogenic diabetes is important for patient care. Given the extensive genetic and clinical heterogeneity of diabetes, exome sequencing might provide additional diagnostic potential when standard Sanger sequencing-baseddiagnosticsisinconclusive. Objective:TheaimofthestudywastoexaminetheperformanceofexomesequencingforamoleculardiagnosisofMODY inpatientswhohaveundergoneconventionaldiagnosticsequencingofcandidategeneswithnegativeresults. Research Design and Methods: We performed exome enrichment followed by high-throughput sequencing in nine patientswithsuspectedMODY.TheywereSangersequencing-negativeformutationsintheHNF1A,HNF4A,GCK,HNF1Band INSgenes.Weexcludedcommon,non-codingandsynonymousgenevariants,andperformedin-depthanalysiso